ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1777C>T (p.Arg593Trp) (rs886039530)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255573 SCV000322273 pathogenic not provided 2016-08-23 criteria provided, single submitter clinical testing The R593W pathogenic variant in the ATP1A2 gene has been reported previously in a family with hemiplegic migraine (Vanmolkot et al., 2006). Functional studies suggest that the R593W variant impacts the pump function of the ATP1A2 protein (Schack et al., 2012). The R593W variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R593W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a conserved position predicted to be within the phosphorylation subdomain.
Neurogenetics Laboratory - MEYER,AOU Meyer RCV000417013 SCV000494559 uncertain significance Epileptic encephalopathy 2016-11-16 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.